期刊
JOURNAL OF MOVEMENT DISORDERS
卷 8, 期 1, 页码 1-13出版社
KOREAN MOVEMENT DISORDERS SOC
DOI: 10.14802/jmd.14034
关键词
Neurodegenerative diseases; Iron; Neuroaxonal dystrophies; Pantothenate kinase associated neurodegeneration; Iron metabolism disorders; Brain diseases; metabolic; inborn
资金
- Oregon Clinical and Translational Research Institute (OCTRI)
- National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH) [UL1TR000128]
- NBIA Disorders Association
- European Commission's 7th Framework Programme [HEALTHF2-2011, 277984]
- Retrophin, Inc
- Michael J. Fox Foundation
- Vertex, Inc
- NBIA Alliance, uthe NBIA Disorders Association and Hoffnungsbaum e.V.
- NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES [UL1TR000128] Funding Source: NIH RePORTER
Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron deposition in the basal ganglia. The genetic basis of ten forms of NBIA is now known. The clinical features of NBIA range from rapid global neurodevelopmental regression in infancy to mild parkinsonism with minimal cognitive impairment in adulthood, with wide variation seen between and within the specific NBIA sub-type. This review describes the clinical presentations, imaging findings, pathologic features, and treatment considerations for this heterogeneous group of disorders.
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